Harlequin Ichthyosis is a severe genetic disorder.
Abnormalities in the skin may affect the shape of the eyelids, nose, mouth and ears.
babies with harlequin ichthyosis need immediate care in a neonatal intensive care unit.
As the disorder is very rare, the actual incidence is not known yet.
Harlequin Ichthyosis is a severe genetic disorder that mainly affects skin’s regeneration process. It is a rare skin disorder and one of the most severe ones. It begins with keratin, a gene responsible for lipid transportation which mutates and hardens a protein in the outer layer of the skin.
Infants born with harlequin ichthyosis have hard and thick skin covering all over their bodies which make it difficult for them to move freely. There are large diamond shaped plates in the skin which are separated by deep cracks. These abnormalities in the skin may affect the shape of the eyelids, nose, mouth and ears and may even limit the movements of the arms, legs and chest. The restricted movement of the chest due to the hardened scales across the baby’s chest can lead to breathing problems and can even cause respiratory failure.
In normal conditions our skin forms the protective barrier between the body and its surrounding environment while in harlequin ichthyosis the abnormalities of the skin break this barrier thereby making it difficult for the affected infants to control water loss, regulate the body temperature and fight infections. Affected infants often experience dehydration and caught life threatening infections in just after the few weeks of their birth.
In 2005, a study was conducted by Queen Mary’s School of Medicine and Dentistry on 12 children with Harlequin Ichthyosis. The researchers discovered that harlequin icthyosis is a result of a mutation in the ABCA12 gene which restricts the fats known as lipids to enter the top layer of newborn’s epidermis. It can also pass from the parents to their child.
Thick skin plates that crack and split
Distorted facial features
Tight skin around the eyes and mouth and deformed ears
High blood sodium levels
Babies with harlequin ichthyosis need immediate care in a neonatal intensive care unit as the affected babies are less able to maintain a safe body temperature and suffer from dehydration and are more prone to getting life threatening infections in the first weeks of their birth. Measures that can be taken once parents identify the symptoms include delivering fluids and nutrition through intravenous tubes, the electrolytes and sodium should be monitored, if the eyelids are opened forcefully, lubrication and protection should be used on the eyes of the babies, and antibiotics may be prescribed to prevent the infection.
As the disorder is very rare, the actual incidence is not known yet. Children affected with harlequin are at high risk of malnutrition and delayed development due to loss of vitamin D, protein through the skin and less exposure to the sun. The current long term outlook for children with this disorder is still unknown.
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A loss of functional gene ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.read more